Allele Registry

Canonical Allele Identifier: PA2825942128

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000424008

RCV003442712

ClinVar Variation:

389297

2663524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153632.1:p.Phe1472Leu	CA16604466 NM_001160160.2:c.4414T>C CA352145251 NM_001160160.2:c.4416C>G CA352145252 NM_001160160.2:c.4416C>A